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Waardenburg syndrome with dry eyes: A rare association

Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare c...

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Autores principales: Shrinkhal, Singh, Anupam, Mittal, Sanjeev Kumar, Agrawal, Ajai, Verma, Rupal, Yadav, Preeti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759548/
https://www.ncbi.nlm.nih.gov/pubmed/31572658
http://dx.doi.org/10.4103/tjo.tjo_103_18
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author Shrinkhal,
Singh, Anupam
Mittal, Sanjeev Kumar
Agrawal, Ajai
Verma, Rupal
Yadav, Preeti
author_facet Shrinkhal,
Singh, Anupam
Mittal, Sanjeev Kumar
Agrawal, Ajai
Verma, Rupal
Yadav, Preeti
author_sort Shrinkhal,
collection PubMed
description Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes.
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spelling pubmed-67595482019-09-30 Waardenburg syndrome with dry eyes: A rare association Shrinkhal, Singh, Anupam Mittal, Sanjeev Kumar Agrawal, Ajai Verma, Rupal Yadav, Preeti Taiwan J Ophthalmol Case Report Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes. Wolters Kluwer - Medknow 2019-09-12 /pmc/articles/PMC6759548/ /pubmed/31572658 http://dx.doi.org/10.4103/tjo.tjo_103_18 Text en Copyright: © 2019 Taiwan J Ophthalmol http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Shrinkhal,
Singh, Anupam
Mittal, Sanjeev Kumar
Agrawal, Ajai
Verma, Rupal
Yadav, Preeti
Waardenburg syndrome with dry eyes: A rare association
title Waardenburg syndrome with dry eyes: A rare association
title_full Waardenburg syndrome with dry eyes: A rare association
title_fullStr Waardenburg syndrome with dry eyes: A rare association
title_full_unstemmed Waardenburg syndrome with dry eyes: A rare association
title_short Waardenburg syndrome with dry eyes: A rare association
title_sort waardenburg syndrome with dry eyes: a rare association
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759548/
https://www.ncbi.nlm.nih.gov/pubmed/31572658
http://dx.doi.org/10.4103/tjo.tjo_103_18
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